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Intellectual disability - syndromic and non-syndromic forms

*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.

Exome-based comprehensive analysis

Large panel: Exome-based analysis of ~ 2500 consensus sequences for identification (Erger et al., 2019). Prioritising the gene for analysis using HPO terms.

Coffin-Siris syndrome

Small panel (#018): Coffin-Siris syndrome, genes according to Tsurusaki et al., Clin Genet 2014 and Wieczorek et al., Human Molecular Genetics 2013

ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1 
(6 genes, 22,1 kb)


Large panel (#267): Coffin-Siris syndrome

ARID1A*, ARID1B*, ARID2, DPF2, PHF6, SMARCA4, SMARCB1, SMARCE1, SMARCA2, SOX11
(10 genes, 34,92 kb)

Kabuki syndrome

Small panel (#268): Kabuki syndrome

KDM6A*, KMT2D*
(2 genes, 20,82 kb)

Cornelia-de-Lange syndrome

Small panel (#019): Cornelia-de-Lange syndrome, genes according to NCBI GeneReviews


1. NIPBL*, 2. HDAC8, RAD21, SMC1A, SMC3 
(5 genes, 18,8 kb)

Poretti-Holzhauser syndrome

Small panel (#270): Poretti-Holzhauser syndrome

LAMA1
(1 gene, 9,23 kb)

Dystroglycanopathy

Small panel (#022): Dystroglycanopathy, congenital glycosylation disorder, selection according to NCBI GeneReviews, OMIM database

1. PMM2, 2. ALG1, ALG12, ALG3, ALG6, ALG8, COG5, COG6, DPAGT1, DPM1, MPDU1, MPI, RFT1, SRD5A3, TMEM165, TUSC3, PGM3 
(17 genes, 22,93 kb)


Large panel (#021): Dystroglycanopathy, congenital glycosylation disorder, genes according to NCBI GeneReviews, OMIM database

1. PMM2, 2. ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3, PGM3 
(43 genes, 70,22 kb)

Epileptic encephalopathy

Large panel (#020): Epileptic encephalopathy in infants and children, genes according to McTague et al., Lancet Neurol 2016

AARS, ALG13, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, DNM1, DOCK7, FLNA, FOXG1, GABRA1, GABRB3, GNAO1, GRIN1, GRIN2A, HCN1, IQSEC2, KCNA2, KCNQ2, KCNQ3, KCNT1, MEF2C, MTOR, NDP, NECAP1, NRXN1, PCDH19, PIGA, PLCB1, PTEN, QARS, SCN1A, SCN2A, SCN8A, SETBP1, SIK1, SLC12A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SPTAN1, ST3GAL3, STXBP1, TBC1D24, TCF4, WWOX
(49 genes, 150,25 kb)


Single gene diagnostics:

BRAT1, SCN2

Autism

Large panel (#469)
All genes in the panel (360 genes, 1419 kb)

Treacher-Collins syndrome

Small panel (#271): Treacher-Collins syndrome

TCOF1, POLR1C, POLR1D
(3 genes, 5,91 kb)

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

Diseases & Therapies
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